Next Generation Sequencing Technology Fundamentals and Applications

Next generation sequencing (NGS) technologies are having a profound impact in basic and applied research, in manufacturing processes and in clinical applications. The ability to sequence whole genomes with relative ease has enabled the replacement of multiple individual molecular assays with a global detection methodology that can detect and characterize nucleic acids in any sample with high sensitivity and resolution. Powerful applications based on the easy detection of organisms in supposedly sterile preparations, characterizing cancer mutations from a solid tumor anywhere in the body by sequencing circulating tumor DNA in blood plasma or body fluids, or defining the list of organisms in an environment such as bovine rumen have become relatively trivial. In this journal supplement, the primary technologies used in NGS will be described and compared. Basic and translational applications of next generation sequencing will be delineated followed by a thorough description of key clinical applications. The instructors have more than a decade of experience in the development and deployment of NGS technologies.